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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. DKC1, dyskeratosis congenita 1, dyskerin
Sequence ID:NM_001142463
NM_001363
RefSeqGene ID:NG_009780
Entrez Gene ID:1736
Ensembl ID:ENSG00000130826

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone, bone marrow, brain, cartilage, cerebrum, cervix, colon, ear, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, peripheral nervous system, pituitary gland, placenta, pooled tissue, prostate, retina, salivary gland, skin, soft tissue, spleen, stem cell, stomach, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
DYSKERATOSIS CONGENITA, X-LINKED 
HOYERAAL-HREIDARSSON SYNDROME 

Cytogenetic Location (from UniGene)

Cytogenetic Location:Xq28Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:X: 153991180 - 154005958

 Exon Info From UCSC:
NM_001142463
NM_001363

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3604732Full LengthBC009928dyskeratosis congenita 1, dyskerin
4303933Full LengthBC010015dyskeratosis congenita 1, dyskerin

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_001354  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001142463 NP_001135935    
NM_001363 NP_001354 O60832 PUA
TruB_N
DKCLD

Related Sequences

 
mRNAGenPeptSwissProt
U59151 AAB94299 O60832
AF067008 AAD11815 O60832
BC009928 AAH09928 O60832
BC010015 AAH10015 O60832
DQ892737 ABM83663  
DQ895984 ABM86910  
JF279874 ADX66370 O60832
AM392631 CAL37509  
AM392823 CAL37701  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens DKC1 NP_001354 M.musculus Dkc1 245474 Gene Info NP_001025478 92
S.pombe SPAC29A4.04c 2542481   NP_594878 68
C.elegans K01G5.5 176504   NP_499370 67
D.melanogaster Nop60B 37873   NP_001014547 67
A.gambiae AgaP_AGAP004739 1278486   XP_318082 66
A.thaliana NAP57 824882   NP_191274 65
S.cerevisiae CBF5 850872   NP_013276 65
N.crassa NCU01290 3876965   XP_960827 61
P.falciparum PF14_0174 811755   XP_001348347 56

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)